The ensembl variant effect predictor
Abstract The Ensembl Variant Effect Predictor is a powerful toolset for the analysis,
annotation, and prioritization of genomic variants in coding and non-coding regions. It …
annotation, and prioritization of genomic variants in coding and non-coding regions. It …
[HTML][HTML] Genetic factors influencing risk to orofacial clefts: today's challenges and tomorrow's opportunities
Orofacial clefts include cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), which
combined represent the largest group of craniofacial malformations in humans with an …
combined represent the largest group of craniofacial malformations in humans with an …
New developments in the biology of fibroblast growth factors
DM Ornitz, N Itoh - WIREs mechanisms of disease, 2022 - Wiley Online Library
The fibroblast growth factor (FGF) family is composed of 18 secreted signaling proteins
consisting of canonical FGFs and endocrine FGFs that activate four receptor tyrosine …
consisting of canonical FGFs and endocrine FGFs that activate four receptor tyrosine …
A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24. 2, 17q23 and 19q13
Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate
(CL/P), are among the most common birth defects in humans, affecting approximately 1 in …
(CL/P), are among the most common birth defects in humans, affecting approximately 1 in …
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or …
Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial
birth defects with complex etiologies that include genetic and environmental risk factors …
birth defects with complex etiologies that include genetic and environmental risk factors …
Genetics and signaling mechanisms of orofacial clefts
Craniofacial development involves several complex tissue movements including several
fusion processes to form the frontonasal and maxillary structures, including the upper lip and …
fusion processes to form the frontonasal and maxillary structures, including the upper lip and …
High-resolution epigenomic atlas of human embryonic craniofacial development
Defects in patterning during human embryonic development frequently result in craniofacial
abnormalities. The gene regulatory programs that build the craniofacial complex are likely …
abnormalities. The gene regulatory programs that build the craniofacial complex are likely …
A genome-wide association study of nonsyndromic cleft palate identifies an etiologic missense variant in GRHL3
Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately
half of infants with CP have a syndromic form, exhibiting other physical and cognitive …
half of infants with CP have a syndromic form, exhibiting other physical and cognitive …
Genome-wide enrichment of de novo coding mutations in orofacial cleft trios
MR Bishop, KKD Perez, M Sun, S Ho, P Chopra… - The American Journal of …, 2020 - cell.com
Although de novo mutations (DNMs) are known to increase an individual's risk of congenital
defects, DNMs have not been fully explored regarding orofacial clefts (OFCs), one of the …
defects, DNMs have not been fully explored regarding orofacial clefts (OFCs), one of the …
New insights into craniofacial malformations
Abstract Development of the human skull and face is a highly orchestrated and complex
three-dimensional morphogenetic process, involving hundreds of genes controlling the …
three-dimensional morphogenetic process, involving hundreds of genes controlling the …